Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1455, Issue 2-3, 1999, Pages 167-178

  Freeze, Hudson H ^a   Aebi, Markus ^b  

^a BURNHAM INSTITUTE   (United States)

^b ETH ZURICH   (Switzerland)

Author keywords

Glucosyltransferase; Carbohydrate deficient glycoprotein syndrome; Mannose; Metabolic disorder; Phosphomannose isomerase; Therapy

Indexed keywords

GLUCOSYLTRANSFERASE; MANNOSE; MANNOSE PHOSPHATE ISOMERASE; OLIGOSACCHARIDE; PHOSPHOMANNOMUTASE; TRANSFERRIN;

BIOSYNTHESIS; CLINICAL FEATURE; CONGENITAL DISORDER; CONGENITAL DISORDER OF GLYCOSYLATION; DEVELOPMENTAL DISORDER; DIARRHEA; DIET SUPPLEMENTATION; ENDOPLASMIC RETICULUM; ENZYME DEFICIENCY; GENE MUTATION; GLYCOSYLATION; GOLGI COMPLEX; HUMAN; HYPOGLYCEMIA; ISOELECTRIC FOCUSING; LIVER FIBROSIS; MOLECULAR BIOLOGY; NEUROPATHY; PRIORITY JOURNAL; PROTEIN LOSING GASTROENTEROPATHY; REVIEW; TRANSFERRIN BLOOD LEVEL; VOMITING; YEAST;

CARBOHYDRATE SEQUENCE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; GLUCOSYLTRANSFERASES; GLYCOSYLATION; HUMANS; ISOELECTRIC FOCUSING; LIPOPOLYSACCHARIDES; MANNOSE; MANNOSE-6-PHOSPHATE ISOMERASE; MOLECULAR SEQUENCE DATA; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); TRANSFERRIN;

EID: 0032869205     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(99)00072-1     Document Type: Review

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